Molecular screening of <i>ADAMTSL2</i> gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

Slimane Allali, Carine Le Goff, Isabelle Pressac–Diebold, Gwendoline Pfennig, Clémentine Mahaut, Nathalie Dagoneau, Yasemin Alanay, Angela F Brady, Yanick J Crow, Koen Devriendt, Valérie Drouin-Garraud, Elisabeth Flori, David Geneviève, Raoul C Hennekam, Jane Hurst, Deborah Krakow, Martine Le Merrer, Klaske D Lichtenbelt, Sally A Lynch, Stanislas Lyonnet, Kay MacDermot, Sahar Mansour, André Megarbané, Heloisa G Santos, Miranda Splitt, Andrea Superti-Furga, Sheila Unger, Denise Williams, Arnold Munnich, Valérie Cormier-Daire

Open source

DOI: 10.1136/jmg.2010.087544
Published: 2011-03-17
Container: Journal of Medical Genetics
Publisher: BMJ
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1136/jmg.2010.087544,
  title = {Molecular screening of <i>ADAMTSL2</i> gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia},
  author = {Slimane Allali and Carine Le Goff and Isabelle Pressac–Diebold and Gwendoline Pfennig and Clémentine Mahaut and Nathalie Dagoneau and Yasemin Alanay and Angela F Brady and Yanick J Crow and Koen Devriendt and Valérie Drouin-Garraud and Elisabeth Flori and David Geneviève and Raoul C Hennekam and Jane Hurst and Deborah Krakow and Martine Le Merrer and Klaske D Lichtenbelt and Sally A Lynch and Stanislas Lyonnet and Kay MacDermot and Sahar Mansour and André Megarbané and Heloisa G Santos and Miranda Splitt and Andrea Superti-Furga and Sheila Unger and Denise Williams and Arnold Munnich and Valérie Cormier-Daire},
  year = {2011},
  journal = {Journal of Medical Genetics},
  doi = {10.1136/jmg.2010.087544},
  url = {https://doi.org/10.1136/jmg.2010.087544}
}

RIS

TY  - JOUR
TI  - Molecular screening of <i>ADAMTSL2</i> gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
AU  - Slimane Allali
AU  - Carine Le Goff
AU  - Isabelle Pressac–Diebold
AU  - Gwendoline Pfennig
AU  - Clémentine Mahaut
AU  - Nathalie Dagoneau
AU  - Yasemin Alanay
AU  - Angela F Brady
AU  - Yanick J Crow
AU  - Koen Devriendt
AU  - Valérie Drouin-Garraud
AU  - Elisabeth Flori
AU  - David Geneviève
AU  - Raoul C Hennekam
AU  - Jane Hurst
AU  - Deborah Krakow
AU  - Martine Le Merrer
AU  - Klaske D Lichtenbelt
AU  - Sally A Lynch
AU  - Stanislas Lyonnet
AU  - Kay MacDermot
AU  - Sahar Mansour
AU  - André Megarbané
AU  - Heloisa G Santos
AU  - Miranda Splitt
AU  - Andrea Superti-Furga
AU  - Sheila Unger
AU  - Denise Williams
AU  - Arnold Munnich
AU  - Valérie Cormier-Daire
PY  - 2011
JO  - Journal of Medical Genetics
DO  - 10.1136/jmg.2010.087544
UR  - https://doi.org/10.1136/jmg.2010.087544
ER  -

APA

Allali, S., Goff, C. L., Pressac–Diebold, I., Pfennig, G., Mahaut, C., Dagoneau, N., Alanay, Y., Brady, A. F., Crow, Y. J., Devriendt, K., Drouin-Garraud, V., Flori, E., Geneviève, D., Hennekam, R. C., Hurst, J., Krakow, D., Merrer, M. L., Lichtenbelt, K. D., Lynch, S. A., Lyonnet, S., MacDermot, K., Mansour, S., Megarbané, A., Santos, H. G., Splitt, M., Superti-Furga, A., Unger, S., Williams, D., Munnich, A., & Cormier-Daire, V. (2011). Molecular screening of <i>ADAMTSL2</i> gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2010.087544

Source records

crossref · retrieved 2026-09-25T01:55:33.701Z